MCID: SCL050
MIFTS: 14

Scoliosis, Arachnodactyly, and Blindness

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Scoliosis, Arachnodactyly, and Blindness

MalaCards integrated aliases for Scoliosis, Arachnodactyly, and Blindness:

Name: Scoliosis, Arachnodactyly, and Blindness 56
Blindness-Scoliosis-Arachnodactyly Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
blindness-scoliosis-arachnodactyly syndrome
Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 612445
UMLS via Orphanet 72 C2676234
Orphanet 58 ORPHA171844
MedGen 41 C2676234

Summaries for Scoliosis, Arachnodactyly, and Blindness

MalaCards based summary : Scoliosis, Arachnodactyly, and Blindness, is also known as blindness-scoliosis-arachnodactyly syndrome. Affiliated tissues include eye, and related phenotypes are scoliosis and blindness

More information from OMIM: 612445

Related Diseases for Scoliosis, Arachnodactyly, and Blindness

Symptoms & Phenotypes for Scoliosis, Arachnodactyly, and Blindness

Human phenotypes related to Scoliosis, Arachnodactyly, and Blindness:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
3 arachnodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001166
4 visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000572
5 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
6 abnormality of retinal pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007703
7 lens subluxation 58 31 frequent (33%) Frequent (79-30%) HP:0001132
8 retinal detachment 58 31 frequent (33%) Frequent (79-30%) HP:0000541
9 esotropia 58 31 frequent (33%) Frequent (79-30%) HP:0000565
10 microphakia 58 31 frequent (33%) Frequent (79-30%) HP:0012376
11 strabismus 58 Frequent (79-30%)

Clinical features from OMIM:

612445

Drugs & Therapeutics for Scoliosis, Arachnodactyly, and Blindness

Search Clinical Trials , NIH Clinical Center for Scoliosis, Arachnodactyly, and Blindness

Genetic Tests for Scoliosis, Arachnodactyly, and Blindness

Anatomical Context for Scoliosis, Arachnodactyly, and Blindness

MalaCards organs/tissues related to Scoliosis, Arachnodactyly, and Blindness:

40
Eye

Publications for Scoliosis, Arachnodactyly, and Blindness

Articles related to Scoliosis, Arachnodactyly, and Blindness:

# Title Authors PMID Year
1
Scoliosis, blindness and arachnodactyly in a large Turkish family: is it a new syndrome? 56
18990988 2008
2
Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome. 61
26657231 2015

Variations for Scoliosis, Arachnodactyly, and Blindness

Expression for Scoliosis, Arachnodactyly, and Blindness

Search GEO for disease gene expression data for Scoliosis, Arachnodactyly, and Blindness.

Pathways for Scoliosis, Arachnodactyly, and Blindness

GO Terms for Scoliosis, Arachnodactyly, and Blindness

Sources for Scoliosis, Arachnodactyly, and Blindness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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